Incidental Mutation 'R7213:Shank2'
ID 561212
Institutional Source Beutler Lab
Gene Symbol Shank2
Ensembl Gene ENSMUSG00000037541
Gene Name SH3 and multiple ankyrin repeat domains 2
Synonyms ProSAP1
MMRRC Submission 045341-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 143555665-143978231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143585146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 49 (M49K)
Ref Sequence ENSEMBL: ENSMUSP00000149134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105902] [ENSMUST00000213146]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000105902
AA Change: M49K

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101522
Gene: ENSMUSG00000037541
AA Change: M49K

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
Pfam:FERM_f0 57 140 1.4e-21 PFAM
ANK 196 226 1.4e1 SMART
ANK 230 259 2.77e-3 SMART
ANK 263 293 1.42e0 SMART
ANK 297 326 1.25e-1 SMART
ANK 330 359 7.83e-3 SMART
ANK 363 391 1.29e2 SMART
SH3 529 584 1.04e-14 SMART
PDZ 635 720 1.75e-14 SMART
low complexity region 724 743 N/A INTRINSIC
low complexity region 878 893 N/A INTRINSIC
low complexity region 1031 1043 N/A INTRINSIC
low complexity region 1118 1129 N/A INTRINSIC
low complexity region 1149 1161 N/A INTRINSIC
low complexity region 1198 1216 N/A INTRINSIC
low complexity region 1393 1407 N/A INTRINSIC
low complexity region 1462 1473 N/A INTRINSIC
low complexity region 1494 1516 N/A INTRINSIC
low complexity region 1530 1546 N/A INTRINSIC
low complexity region 1568 1576 N/A INTRINSIC
low complexity region 1656 1670 N/A INTRINSIC
low complexity region 1713 1728 N/A INTRINSIC
low complexity region 1752 1766 N/A INTRINSIC
SAM 1775 1841 2.52e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213146
AA Change: M49K

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for null mutations display hyperactivity and abnormal social behavior. Mice homozygous for one null allele also display partial postnal lethality and limb grasping. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Itgbl1 G A 14: 124,210,709 (GRCm39) C469Y probably damaging Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S probably damaging Het
Other mutations in Shank2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Shank2 APN 7 143,965,584 (GRCm39) missense probably damaging 1.00
IGL00516:Shank2 APN 7 143,964,512 (GRCm39) missense possibly damaging 0.96
IGL00919:Shank2 APN 7 143,965,008 (GRCm39) missense probably damaging 0.97
IGL01450:Shank2 APN 7 143,838,805 (GRCm39) nonsense probably null
IGL01996:Shank2 APN 7 143,965,230 (GRCm39) missense probably damaging 1.00
IGL02217:Shank2 APN 7 143,838,784 (GRCm39) missense possibly damaging 0.59
IGL02314:Shank2 APN 7 143,965,008 (GRCm39) missense probably benign 0.01
IGL02320:Shank2 APN 7 143,974,681 (GRCm39) missense probably damaging 1.00
IGL02948:Shank2 APN 7 143,963,373 (GRCm39) missense probably benign 0.03
IGL02997:Shank2 APN 7 143,635,610 (GRCm39) missense probably benign 0.16
R0077:Shank2 UTSW 7 143,746,204 (GRCm39) missense possibly damaging 0.85
R0109:Shank2 UTSW 7 143,964,314 (GRCm39) missense possibly damaging 0.81
R0126:Shank2 UTSW 7 143,585,092 (GRCm39) missense probably damaging 0.99
R0153:Shank2 UTSW 7 143,623,872 (GRCm39) missense probably benign 0.04
R0644:Shank2 UTSW 7 143,965,586 (GRCm39) missense probably benign
R1072:Shank2 UTSW 7 143,965,305 (GRCm39) missense probably damaging 1.00
R1245:Shank2 UTSW 7 143,965,457 (GRCm39) missense probably benign 0.00
R1424:Shank2 UTSW 7 143,606,109 (GRCm39) missense probably damaging 0.99
R1712:Shank2 UTSW 7 143,964,890 (GRCm39) missense probably damaging 1.00
R1739:Shank2 UTSW 7 143,733,590 (GRCm39) missense probably damaging 1.00
R1791:Shank2 UTSW 7 143,964,336 (GRCm39) missense probably damaging 1.00
R1889:Shank2 UTSW 7 143,740,595 (GRCm39) nonsense probably null
R2074:Shank2 UTSW 7 143,963,277 (GRCm39) missense probably damaging 1.00
R2135:Shank2 UTSW 7 143,964,971 (GRCm39) missense probably damaging 0.99
R2355:Shank2 UTSW 7 143,611,455 (GRCm39) missense possibly damaging 0.94
R2511:Shank2 UTSW 7 143,965,314 (GRCm39) missense probably damaging 1.00
R2517:Shank2 UTSW 7 143,606,042 (GRCm39) missense possibly damaging 0.89
R2570:Shank2 UTSW 7 143,622,507 (GRCm39) missense probably damaging 1.00
R2846:Shank2 UTSW 7 143,623,792 (GRCm39) missense probably damaging 1.00
R3159:Shank2 UTSW 7 143,635,611 (GRCm39) missense probably damaging 0.98
R3881:Shank2 UTSW 7 143,959,121 (GRCm39) missense probably benign
R3907:Shank2 UTSW 7 143,963,313 (GRCm39) missense probably damaging 1.00
R3938:Shank2 UTSW 7 143,682,112 (GRCm39) missense probably benign 0.20
R4151:Shank2 UTSW 7 143,608,565 (GRCm39) missense probably damaging 1.00
R4369:Shank2 UTSW 7 143,733,518 (GRCm39) missense probably damaging 0.99
R4372:Shank2 UTSW 7 143,964,599 (GRCm39) missense probably benign 0.09
R4519:Shank2 UTSW 7 143,963,942 (GRCm39) missense probably damaging 1.00
R4627:Shank2 UTSW 7 143,965,161 (GRCm39) missense probably damaging 1.00
R4645:Shank2 UTSW 7 143,964,159 (GRCm39) missense possibly damaging 0.65
R4647:Shank2 UTSW 7 143,965,566 (GRCm39) missense probably damaging 1.00
R4689:Shank2 UTSW 7 143,974,342 (GRCm39) missense probably benign 0.07
R4751:Shank2 UTSW 7 143,963,205 (GRCm39) missense probably damaging 1.00
R4816:Shank2 UTSW 7 143,606,043 (GRCm39) missense probably damaging 1.00
R4843:Shank2 UTSW 7 143,585,146 (GRCm39) missense probably benign 0.17
R4929:Shank2 UTSW 7 143,965,008 (GRCm39) missense probably benign 0.01
R5009:Shank2 UTSW 7 143,623,916 (GRCm39) missense probably benign 0.00
R5027:Shank2 UTSW 7 143,812,842 (GRCm39) nonsense probably null
R5165:Shank2 UTSW 7 143,963,373 (GRCm39) missense possibly damaging 0.62
R5278:Shank2 UTSW 7 143,622,612 (GRCm39) critical splice donor site probably null
R5332:Shank2 UTSW 7 143,965,029 (GRCm39) missense possibly damaging 0.82
R5497:Shank2 UTSW 7 143,963,271 (GRCm39) missense probably damaging 1.00
R5525:Shank2 UTSW 7 143,623,846 (GRCm39) missense probably damaging 1.00
R5575:Shank2 UTSW 7 143,963,871 (GRCm39) missense probably damaging 1.00
R5948:Shank2 UTSW 7 143,960,960 (GRCm39) missense probably damaging 0.98
R6024:Shank2 UTSW 7 143,733,768 (GRCm39) missense probably benign 0.12
R6306:Shank2 UTSW 7 143,963,417 (GRCm39) missense probably benign 0.00
R6317:Shank2 UTSW 7 143,838,821 (GRCm39) missense possibly damaging 0.89
R6358:Shank2 UTSW 7 143,585,034 (GRCm39) missense probably benign 0.25
R6364:Shank2 UTSW 7 143,964,146 (GRCm39) missense probably benign 0.14
R6413:Shank2 UTSW 7 143,963,955 (GRCm39) missense probably damaging 1.00
R6680:Shank2 UTSW 7 143,974,603 (GRCm39) missense probably damaging 1.00
R6834:Shank2 UTSW 7 143,963,631 (GRCm39) missense probably damaging 1.00
R6870:Shank2 UTSW 7 143,606,197 (GRCm39) missense probably damaging 0.99
R6933:Shank2 UTSW 7 143,645,515 (GRCm39) missense probably benign 0.19
R6983:Shank2 UTSW 7 143,635,585 (GRCm39) missense possibly damaging 0.94
R7082:Shank2 UTSW 7 143,964,096 (GRCm39) missense probably damaging 0.99
R7100:Shank2 UTSW 7 143,964,901 (GRCm39) missense possibly damaging 0.73
R7111:Shank2 UTSW 7 143,965,289 (GRCm39) missense probably benign 0.00
R7225:Shank2 UTSW 7 143,838,762 (GRCm39) missense probably benign 0.42
R7325:Shank2 UTSW 7 143,965,422 (GRCm39) missense probably benign 0.04
R7605:Shank2 UTSW 7 143,645,516 (GRCm39) missense possibly damaging 0.64
R7909:Shank2 UTSW 7 143,965,131 (GRCm39) missense probably damaging 1.00
R7976:Shank2 UTSW 7 143,964,798 (GRCm39) missense probably damaging 0.99
R8118:Shank2 UTSW 7 143,963,612 (GRCm39) missense probably benign 0.01
R8722:Shank2 UTSW 7 143,729,485 (GRCm39) intron probably benign
R8866:Shank2 UTSW 7 143,964,986 (GRCm39) missense probably benign
R8919:Shank2 UTSW 7 143,965,265 (GRCm39) missense probably damaging 1.00
R8944:Shank2 UTSW 7 143,623,927 (GRCm39) missense probably damaging 1.00
R9033:Shank2 UTSW 7 143,965,236 (GRCm39) missense probably damaging 0.99
R9091:Shank2 UTSW 7 143,963,705 (GRCm39) missense possibly damaging 0.76
R9252:Shank2 UTSW 7 143,622,535 (GRCm39) missense possibly damaging 0.96
R9270:Shank2 UTSW 7 143,963,705 (GRCm39) missense possibly damaging 0.76
R9350:Shank2 UTSW 7 143,960,945 (GRCm39) missense probably benign 0.00
R9362:Shank2 UTSW 7 143,963,271 (GRCm39) missense probably damaging 1.00
R9471:Shank2 UTSW 7 143,964,752 (GRCm39) missense possibly damaging 0.77
R9524:Shank2 UTSW 7 143,964,183 (GRCm39) missense possibly damaging 0.71
R9557:Shank2 UTSW 7 143,963,847 (GRCm39) missense probably benign 0.00
R9559:Shank2 UTSW 7 143,585,041 (GRCm39) missense probably benign 0.30
R9574:Shank2 UTSW 7 143,622,462 (GRCm39) missense possibly damaging 0.90
R9680:Shank2 UTSW 7 143,964,837 (GRCm39) missense probably damaging 0.96
R9720:Shank2 UTSW 7 143,682,137 (GRCm39) missense probably damaging 0.99
RF009:Shank2 UTSW 7 143,965,308 (GRCm39) missense possibly damaging 0.81
Z1176:Shank2 UTSW 7 143,682,114 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAACAAGTCTCCATGCGCTC -3'
(R):5'- AAGAAATGTCCCAGGAGCC -3'

Sequencing Primer
(F):5'- ATGCGCTCCTGGCTTCTCG -3'
(R):5'- AGGAGCCCTGAGTCTGGAG -3'
Posted On 2019-06-26